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loading...| Preferred Name |
POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 13 |
| Synonyms |
SNOWFLAKE VITREORETINAL DEGENERATION |
| ID |
http://purl.bioontology.org/ontology/OMIM/603208 |
| altLabel |
SNOWFLAKE VITREORETINAL DEGENERATION INWARDLY RECTIFYING POTASSIUM CHANNEL Kir7.1 KCNJ13 LEBER CONGENITAL AMAUROSIS 16 |
| cui |
C1416580 C3280062 C1860405 |
| Gene Locus |
2q37 |
| Gene Symbol |
LCA16 SVD KCNJ13 |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/603208.0001 http://purl.bioontology.org/ontology/OMIM/603208.0005 http://purl.bioontology.org/ontology/OMIM/603208.0002 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
603208 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 13 |
| tui |
T028 T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C536677 | Medical Subject Headings / 医学主题词表 | CUI |